Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008058
Disease: Chilblains
Chilblains
0.110 GeneticVariation disease BEFREE Five individuals (three males, two females) were identified as having biallelic mutations in SAMHD1 and a cerebral arteriopathy in association with peripheral vessel involvement resulting in chilblains and ischaemic ulceration. 20653736 2010
CUI: C0008058
Disease: Chilblains
Chilblains
0.110 Biomarker disease HPO